A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1800853



Internal ID17847406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157534459..157541091hg38UCSC Ensembl
Innerchr1:157504249..157510881hg19UCSC Ensembl
Innerchr1:155770873..155777505hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386633
hg196633
hg186633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946431
Supporting Variants
SamplesHGDP01029
Known GenesFCRL5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1800853
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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